ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser)

dbSNP: rs755332116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531683 SCV000646122 uncertain significance Pitt-Hopkins syndrome 2023-01-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TCF4 protein function. ClinVar contains an entry for this variant (Variation ID: 468954). This variant has not been reported in the literature in individuals affected with TCF4-related conditions. This variant is present in population databases (rs755332116, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 664 of the TCF4 protein (p.Ala664Ser).
Fulgent Genetics, Fulgent Genetics RCV002476174 SCV002793969 uncertain significance Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 2022-04-29 criteria provided, single submitter clinical testing

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